中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (2): 151-153.DOI: 10.19538/j.ek2023020615

• 病例报告 • 上一篇    下一篇

SSR4基因新发突变致先天性糖基化障碍Iy型1例报告

  

  1. 苏州大学附属儿童医院新生儿科，江苏  苏州  215025
  • 出版日期:2023-02-06 发布日期:2023-03-10
  • 通讯作者: 朱雪萍，电子信箱：zhuxueping4637@hotmail.com
  • 基金资助:
    国家自然基金面上项目（81971423，82271741）；江苏省重点研发计划（社会发展项目）（BE2020658）

Congenital disorder of glycosylation-Iy caused bya novel mutation of SSR4 gene：A case report

  1. Department of Neonatology，Children’s Hospital of Soochow University，Suzhou  215025，China
  • Online:2023-02-06 Published:2023-03-10

摘要： 回顾性分析2021年7月苏州大学附属儿童医院收治的1例生后4 h因呼吸窘迫入院的男性SSR4基因突变导致的先天性糖基化障碍-Iy型患儿的临床、随访资料及基因检测结果，显示患儿SSR4基因存在1个半合变异c.80_96del，该变异遗传自患儿母亲。结合文献分析，该病患儿常合并有容貌畸形、喂养困难和中至重度全面发育迟缓，早期基因检测有助明确诊断并进行对症干预，改善其预后。

关键词: 先天性糖基化障碍Iy型, SSR4基因, 外观畸形, 发育迟缓

Abstract: This paper retrospectively analyzes the clinical and follow-up data and genetic test results of a male child with congenital disorder of glycosylation（CDG）-Iy caused by SSR4 mutation，who was admitted to the Children's Hospital of Soochow University on July，2021 due to respiratory distress. The genetic tests showes the presence of a hemizygous variant c.80_96del in the SSR4 gene，which is inherited from the child's mother. Based on the literature，the children with this disease are often complicated with appearance deformities，feeding difficulties，and moderate to severe comprehensive growth retardation. Early genetic testing can help clarify the diagnosis and provide symptomatic interventions to improve the prognosis.

Key words: congenital disorders of glycosylation-Iy, SSR4 gene, appearance deformities, growth retardation